Canonical Allele Identifier: CA2087892
Community Standard Title: NM_005235.3(ERBB4):c.1972A>T (p.Ile658Phe)
Gene: ERBB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.211630569T>A , CM000664.2:g.211630569T>A GRCh38
NC_000002.11:g.212495294T>A , CM000664.1:g.212495294T>A GRCh37
NC_000002.10:g.212203539T>A NCBI36
NG_011805.1:g.913059A>T
NG_011805.2:g.913060A>T

Transcript Alleles

HGVS Amino-acid Change
NM_005235.3:c.1972A>T MANE Select NP_005226.1:p.Ile658Phe
ENST00000342788.9:c.1972A>T MANE Select ENSP00000342235.4:p.Ile658Phe
NM_001042599.1:c.1972A>T NP_001036064.1:p.Ile658Phe
NM_005235.2:c.1972A>T NP_005226.1:p.Ile658Phe
ENST00000260943.10:c.1941A>T
ENST00000260943.11:c.1942A>T ENSP00000260943.7:p.Ile648Phe
ENST00000342788.8:c.1972A>T ENSP00000342235.4:p.Ile658Phe
ENST00000402597.5:c.1795A>T ENSP00000385565.2:p.Ile599Phe
ENST00000402597.6:c.1894A>T ENSP00000385565.3:p.Ile632Phe
ENST00000436443.5:c.1972A>T ENSP00000403204.1:p.Ile658Phe
ENST00000484594.5:n.2024A>T
XM_005246375.1:c.2017A>T XP_005246432.1:p.Ile673Phe
XM_005246376.1:c.1942A>T XP_005246433.1:p.Ile648Phe
XM_005246376.3:c.1942A>T XP_005246433.1:p.Ile648Phe
XM_005246377.1:c.1942A>T XP_005246434.1:p.Ile648Phe
XM_005246377.3:c.1942A>T XP_005246434.1:p.Ile648Phe
XM_006712364.1:c.2017A>T XP_006712427.1:p.Ile673Phe
XM_006712364.3:c.2017A>T XP_006712427.1:p.Ile673Phe
XM_017003577.2:c.2095A>T XP_016859066.1:p.Ile699Phe
XM_017003578.2:c.2050A>T XP_016859067.1:p.Ile684Phe
XM_017003579.2:c.2095A>T XP_016859068.1:p.Ile699Phe
XM_017003580.2:c.2020A>T XP_016859069.1:p.Ile674Phe
XM_017003581.2:c.2050A>T XP_016859070.1:p.Ile684Phe
XM_017003582.1:c.1396A>T XP_016859071.1:p.Ile466Phe